MCID: CRN209
MIFTS: 23

Cornelia De Lange Syndrome 5

Categories: Genetic diseases, Rare diseases, Fetal diseases, Bone diseases, Eye diseases, Neuronal diseases, Muscle diseases

Aliases & Classifications for Cornelia De Lange Syndrome 5

MalaCards integrated aliases for Cornelia De Lange Syndrome 5:

Name: Cornelia De Lange Syndrome 5 53 71 28 13 69
Cdls5 53 71

Characteristics:

OMIM:

53
Miscellaneous:
variable severity
females may be unaffected or mildly affected

Inheritance:
x-linked dominant


HPO:

31
cornelia de lange syndrome 5:
Onset and clinical course variable expressivity
Inheritance x-linked inheritance x-linked dominant inheritance


Classifications:



Summaries for Cornelia De Lange Syndrome 5

OMIM : 53 Cornelia de Lange syndrome is a clinically heterogeneous developmental disorder characterized by malformations affecting multiple systems. Affected individuals have dysmorphic facial features, cleft palate, distal limb defects, growth retardation, and developmental delay. About 60% of patients have mutations in the NIPBL gene (608667) on chromosome 5p13 (CDLS1; 122470), and about 4 to 6% of patients have mutations in the X-linked SMC1A gene (300040) (CDLS2; 300590) (summary by Musio et al., 2006, Hoppman-Chaney et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of Cornelia de Lange syndrome, see 122470. (300882)

MalaCards based summary : Cornelia De Lange Syndrome 5, is also known as cdls5, and has symptoms including seizures, hypertelorism and short neck. An important gene associated with Cornelia De Lange Syndrome 5 is HDAC8 (Histone Deacetylase 8). Affiliated tissues include eye and testes.

UniProtKB/Swiss-Prot : 71 Cornelia de Lange syndrome 5: A form of Cornelia de Lange syndrome, a clinically heterogeneous developmental disorder associated with malformations affecting multiple systems. It is characterized by facial dysmorphisms, abnormal hands and feet, growth delay, cognitive retardation, hirsutism, gastroesophageal dysfunction and cardiac, ophthalmologic and genitourinary anomalies.

Related Diseases for Cornelia De Lange Syndrome 5

Symptoms & Phenotypes for Cornelia De Lange Syndrome 5

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
hypertelorism
ptosis
myopia
telecanthus
long eyelashes
more
Neurologic Central Nervous System:
intellectual disability
mental retardation (in males)
learning disabilities (in females)

Head And Neck Nose:
depressed nasal bridge
broad nasal tip
anteverted nostrils
long columella

Head And Neck Head:
brachycephaly
small head circumference

Head And Neck Face:
long philtrum
micrognathia
retrognathia

Skin Nails Hair Hair:
low anterior hairline
hirsutism

Skin Nails Hair Skin:
cutis marmorata
nevus flammus

Muscle Soft Tissue:
hypotonia

Head And Neck Ears:
hearing loss (in some patients)

Growth Height:
short stature (family h)

Genitourinary External Genitalia Male:
small penis (family h)

Endocrine Features:
hypogonadism (family h)

Head And Neck Neck:
short neck

Head And Neck Teeth:
widely spaced teeth

Abdomen Gastroin testinal:
gastroesophageal reflux
feeding problems

Head And Neck Mouth:
cleft palate
high-arched palate
downturned corners of the mouth

Growth Other:
postnatal growth retardation

Skeletal Feet:
toe syndactyly
small feet

Neurologic Behavioral Psychiatric Manifestations:
happy demeanor
behavioral disorders

Skeletal Hands:
small hands

Skeletal Skull:
delayed closure of the fontanels

Growth Weight:
truncal obesity (family h)

Genitourinary Internal Genitalia Male:
small testes (family h)
cryptorchidism (family h)


Clinical features from OMIM:

300882

Human phenotypes related to Cornelia De Lange Syndrome 5:

31 (show all 47)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 hypertelorism 31 HP:0000316
3 short neck 31 HP:0000470
4 high palate 31 very rare (1%) HP:0000218
5 ptosis 31 very rare (1%) HP:0000508
6 intellectual disability 31 HP:0001249
7 hearing impairment 31 occasional (7.5%) HP:0000365
8 widely spaced teeth 31 HP:0000687
9 global developmental delay 31 very rare (1%) HP:0001263
10 depressed nasal bridge 31 HP:0005280
11 microcephaly 31 HP:0000252
12 short stature 31 HP:0004322
13 gastroesophageal reflux 31 HP:0002020
14 feeding difficulties in infancy 31 very rare (1%) HP:0008872
15 brachycephaly 31 very rare (1%) HP:0000248
16 cleft palate 31 HP:0000175
17 long philtrum 31 very rare (1%) HP:0000343
18 micrognathia 31 very rare (1%) HP:0000347
19 retrognathia 31 HP:0000278
20 short foot 31 very rare (1%) HP:0001773
21 cryptorchidism 31 HP:0000028
22 postnatal growth retardation 31 HP:0008897
23 myopia 31 HP:0000545
24 ventriculomegaly 31 very rare (1%) HP:0002119
25 hypogonadism 31 HP:0000135
26 prominent nasal bridge 31 very rare (1%) HP:0000426
27 telecanthus 31 HP:0000506
28 deeply set eye 31 HP:0000490
29 clinodactyly of the 5th finger 31 very rare (1%) HP:0004209
30 decreased testicular size 31 HP:0008734
31 small hand 31 very rare (1%) HP:0200055
32 downturned corners of mouth 31 very rare (1%) HP:0002714
33 broad nasal tip 31 HP:0000455
34 low anterior hairline 31 very rare (1%) HP:0000294
35 highly arched eyebrow 31 very rare (1%) HP:0002553
36 thin vermilion border 31 very rare (1%) HP:0000233
37 long eyelashes 31 very rare (1%) HP:0000527
38 toe syndactyly 31 HP:0001770
39 synophrys 31 very rare (1%) HP:0000664
40 proximal placement of thumb 31 very rare (1%) HP:0009623
41 cutis marmorata 31 very rare (1%) HP:0000965
42 truncal obesity 31 HP:0001956
43 micropenis 31 HP:0000054
44 generalized hypotonia 31 HP:0001290
45 limited elbow extension 31 very rare (1%) HP:0001377
46 hirsutism 31 very rare (1%) HP:0001007
47 happy demeanor 31 HP:0040082

Drugs & Therapeutics for Cornelia De Lange Syndrome 5

Search Clinical Trials , NIH Clinical Center for Cornelia De Lange Syndrome 5

Genetic Tests for Cornelia De Lange Syndrome 5

Genetic tests related to Cornelia De Lange Syndrome 5:

# Genetic test Affiliating Genes
1 Cornelia De Lange Syndrome 5 28

Anatomical Context for Cornelia De Lange Syndrome 5

MalaCards organs/tissues related to Cornelia De Lange Syndrome 5:

38
Eye, Testes

Publications for Cornelia De Lange Syndrome 5

Variations for Cornelia De Lange Syndrome 5

UniProtKB/Swiss-Prot genetic disease variations for Cornelia De Lange Syndrome 5:

71
# Symbol AA change Variation ID SNP ID
1 HDAC8 p.His180Arg VAR_069140 rs397515416
2 HDAC8 p.Thr311Met VAR_069141 rs397515417
3 HDAC8 p.Gly320Arg VAR_069142 rs398122909
4 HDAC8 p.His334Arg VAR_069143 rs397515418

ClinVar genetic disease variations for Cornelia De Lange Syndrome 5:

6 (show all 19)
# Gene Variation Type Significance SNP ID Assembly Location
1 HDAC8 NM_018486.2(HDAC8): c.164+5G> A single nucleotide variant Pathogenic rs398122888 GRCh37 Chromosome X, 71791902: 71791902
2 HDAC8 NM_018486.2(HDAC8): c.490C> T (p.Arg164Ter) single nucleotide variant Pathogenic rs397515415 GRCh37 Chromosome X, 71715066: 71715066
3 HDAC8 NM_018486.2(HDAC8): c.539A> G (p.His180Arg) single nucleotide variant Pathogenic rs397515416 GRCh37 Chromosome X, 71715017: 71715017
4 HDAC8 NM_018486.2(HDAC8): c.932C> T (p.Thr311Met) single nucleotide variant Pathogenic rs397515417 GRCh37 Chromosome X, 71681927: 71681927
5 HDAC8 NM_018486.2(HDAC8): c.1001A> G (p.His334Arg) single nucleotide variant Pathogenic rs397515418 GRCh37 Chromosome X, 71681858: 71681858
6 HDAC8 NM_001166419.1(HDAC8): c.356C> T (p.Thr119Met) single nucleotide variant Pathogenic rs587779380 GRCh37 Chromosome X, 71787820: 71787820
7 HDAC8 NM_018486.2(HDAC8): c.131delT (p.Leu44Terfs) deletion Pathogenic rs587783663 GRCh37 Chromosome X, 71791940: 71791940
8 HDAC8 NC_000023.10: g.71681853_72434328del752476 deletion Pathogenic GRCh37 Chromosome X, 71681853: 72434328
9 HDAC8 NM_018486.2(HDAC8): c.770C> A (p.Pro257His) single nucleotide variant Likely pathogenic rs797045613 GRCh37 Chromosome X, 71684549: 71684549
10 HDAC8 NM_018486.2(HDAC8): c.556G> A (p.Glu186Lys) single nucleotide variant Likely pathogenic rs797045612 GRCh37 Chromosome X, 71710851: 71710851
11 HDAC8 NM_018486.2(HDAC8): c.229C> T (p.Gln77Ter) single nucleotide variant Pathogenic rs797045611 GRCh37 Chromosome X, 71788670: 71788670
12 HDAC8 NM_018486.2(HDAC8): c.134_137delTTGA (p.Ile45Lysfs) deletion Pathogenic rs797045610 GRCh37 Chromosome X, 71791934: 71791937
13 HDAC8 NM_018486.2(HDAC8): c.1006-2A> G single nucleotide variant Likely pathogenic rs863224877 GRCh38 Chromosome X, 72351840: 72351840
14 HDAC8 NM_018486.2(HDAC8): c.737+1G> A single nucleotide variant Likely pathogenic rs869312660 GRCh37 Chromosome X, 71708782: 71708782
15 HDAC8 NM_018486.2(HDAC8): c.839_843delCTCCAinsGT (p.Thr280_Pro281delinsSer) indel Likely pathogenic rs1057516037 GRCh38 Chromosome X, 72464626: 72464630
16 HDAC8 NM_018486.2(HDAC8): c.527A> G (p.Asp176Gly) single nucleotide variant Likely pathogenic rs1057518727 GRCh37 Chromosome X, 71715029: 71715029
17 HDAC8 NM_018486.2(HDAC8): c.1081C> T (p.Arg361Ter) single nucleotide variant Likely pathogenic GRCh38 Chromosome X, 72351763: 72351763
18 HDAC8 NM_018486.2(HDAC8): c.522C> A (p.Tyr174Ter) single nucleotide variant Pathogenic rs146015223 GRCh38 Chromosome X, 72495184: 72495184
19 HDAC8 NM_018486.2(HDAC8): c.1019A> C (p.Tyr340Ser) single nucleotide variant Likely pathogenic GRCh37 Chromosome X, 71571675: 71571675

Expression for Cornelia De Lange Syndrome 5

Search GEO for disease gene expression data for Cornelia De Lange Syndrome 5.

Pathways for Cornelia De Lange Syndrome 5

GO Terms for Cornelia De Lange Syndrome 5

Sources for Cornelia De Lange Syndrome 5

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